V177I (p.Val177Ile) variant of MED13L (Q71F56)
V177I (p.Val177Ile) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V177I (p.Val177Ile) variant details
- p.Val177Ile
- gnomAD rs1224904574
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available